Variant report

Variant	esv3361119
Chromosome Location	chr2:234082991-234087011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234084064..234085779-chr2:234090831..234092401,2	MCF-7	breast:
2	chr2:234086502..234088128-chr2:234098877..234100462,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542710209	chr2:234083004-234083005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557731574	chr2:234083046-234083047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573124553	chr2:234083052-234083053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545407092	chr2:234083054-234083055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571295940	chr2:234083083-234083084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565163584	chr2:234083098-234083099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531094666	chr2:234083113-234083114	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377519206	chr2:234083125-234083126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550904404	chr2:234083172-234083173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561098217	chr2:234083181-234083182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148646263	chr2:234083258-234083259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548769300	chr2:234083266-234083267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142061075	chr2:234083362-234083363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534444656	chr2:234083366-234083367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551338012	chr2:234083367-234083368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78160319	chr2:234083435-234083436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76649934	chr2:234083436-234083437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77373777	chr2:234083437-234083438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549836124	chr2:234083438-234083439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75782628	chr2:234083439-234083440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6753201	chr2:234083509-234083510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72972236	chr2:234083515-234083516	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140102880	chr2:234083545-234083546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557298054	chr2:234083595-234083596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186055816	chr2:234083599-234083600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536465507	chr2:234083608-234083609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377763016	chr2:234083610-234083611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553166770	chr2:234083611-234083612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573266753	chr2:234083614-234083615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190975525	chr2:234083648-234083649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386656337	chr2:234083670-234083671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113807511	chr2:234083671-234083672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6753436	chr2:234083680-234083681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140971744	chr2:234083689-234083690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569676486	chr2:234083692-234083693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561260518	chr2:234083693-234083694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144814229	chr2:234083694-234083695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138782834	chr2:234083700-234083701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369370210	chr2:234083701-234083702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528177835	chr2:234083720-234083721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182517180	chr2:234083736-234083737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62192878	chr2:234083750-234083751	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185749575	chr2:234083812-234083813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550862067	chr2:234083831-234083832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572649889	chr2:234083836-234083837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190491334	chr2:234083850-234083851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567591437	chr2:234083856-234083857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183097933	chr2:234083940-234083941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188481609	chr2:234083982-234083983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572995787	chr2:234083989-234083990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
4	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
7	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
9	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:234060000-234087800	Weak transcription	NHEK	skin
12	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
16	chr2:234069800-234083400	Strong transcription	Thymus	Thymus
17	chr2:234074200-234111200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:234074800-234101000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:234075000-234100000	Weak transcription	HUVEC	blood vessel
21	chr2:234075200-234087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:234075200-234094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:234075200-234111800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:234075400-234083000	Strong transcription	HMEC	breast
26	chr2:234075400-234087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:234075400-234087400	Strong transcription	Spleen	Spleen
28	chr2:234075400-234087400	Weak transcription	K562	blood
29	chr2:234075400-234088000	Strong transcription	Primary B cells from cord blood	blood
30	chr2:234075400-234111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:234075400-234113800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:234075400-234115200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:234076000-234088000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:234076400-234087600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:234076400-234088000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:234076800-234083200	Strong transcription	Dnd41	blood
37	chr2:234077000-234083200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:234077000-234086000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:234077000-234086400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:234077200-234117200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:234077400-234083000	Strong transcription	HepG2	liver
42	chr2:234077400-234087400	Weak transcription	Pancreas	Pancrea
43	chr2:234077800-234106400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:234078000-234088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:234078200-234087800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:234078200-234088800	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:234078200-234110000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:234078400-234087800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:234078400-234088400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:234078600-234087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links